Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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|
C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. | 27915094 | 2017 |
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|
|
T | 0.700 | CausalMutation | CLINVAR | A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. | 24668549 | 2014 |
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|
|
T | 0.700 | CausalMutation | CLINVAR | [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass]. | 2614104 | 1989 |
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|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. | 20031356 | 2010 |
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|
|
A | 0.700 | GeneticVariation | CLINVAR | Genotype-phenotype correlation in Brazillian Rett syndrome patients. | 19722030 | 2009 |
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|
|
A | 0.700 | GeneticVariation | CLINVAR | Homozygosity for MECP2 gene in a girl with classical Rett syndrome. | 17881312 | 2008 |
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|
|
A | 0.700 | GeneticVariation | CLINVAR | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. | 17089071 | 2007 |
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|
|
A | 0.700 | GeneticVariation | CLINVAR | Prenatal diagnosis in Rett syndrome. | 12065946 | 2003 |
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|
|
A | 0.700 | GeneticVariation | CLINVAR | Chronic osteomyelitis in patients with sickle cell disease. | 10944834 | 2000 |
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|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
TA | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR |